Varaico: Literature-Extracted Genetic Variants

Gene:MCC
Variant:p.E444Q
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MCC

NM_001085377.2:p.E444Q

Associated Papers

Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.

Maguolo A et al.

Frontiers in Pediatrics, 2021

Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).

Al-Jasmi FA et al.

Jimd Reports, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."